| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Retinohepatoendocrinologic syndrome (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Laminopathy type Decaudain Vigouroux |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pyridoxal 5-phosphate dependent epilepsy (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pyridoxine-dependent epilepsy (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| hypogonadisme, diabetes mellitus, alopeci, mental retardering og elektrokardiografiske anomalier |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Isolated follicle stimulating hormone deficiency |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| An extremely rare genetic endocrine disease characterised by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked acrogigantism |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Leydig cell agenesis |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Shwachman syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Leprechaunism syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoparathyroidism type I A |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Kongenit pankreatisk enterokinasemangel |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic triacylglycerol lipase deficiency |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary pancreatitis |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic colipase deficiency |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maternally inherited diabetes and deafness (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Insulin resistance - type A |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoparathyroidism type 1C (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cystic fibrosis of pancreas |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary benign acanthosis nigricans with insulin resistance |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary nonmedullary thyroid carcinoma characterised by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumour syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumours with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| diabetes mellitus associeret med cystisk fibrose |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary site-specific ovarian cancer syndrome |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Dyshormonogenic goitre |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Progressive cerebellar ataxia with hypogonadism |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperproinsulinaemia |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Ovarioleukodystrophy |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes of the young, type 2 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes of the young, type 1 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 3 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 5 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 8 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 10 (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 11 |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked panhypopituitarism (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
FHIR